Variant report

Variant	rs73615015
Chromosome Location	chr19:56116085-56116086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:56115872-56117235	K562	blood:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
2	ZMIZ1	chr19:56116042-56116430	K562	blood:	n/a	n/a
3	MTA3	chr19:56116016-56116517	GM12878	blood:	n/a	n/a
4	IRF1	chr19:56115939-56117029	K562	blood:	n/a	chr19:56116533-56116547 chr19:56116689-56116703 chr19:56116513-56116527 chr19:56115982-56115996
5	CHD2	chr19:56116064-56117353	Hela-S3	cervix:	n/a	chr19:56116997-56117007
6	SP1	chr19:56115773-56118030	A549	lung:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56117056-56117070 chr19:56115982-56115994 chr19:56117707-56117714 chr19:56116691-56116700 chr19:56116998-56117007 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116997-56117009 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116997-56117009 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116991-56117000 chr19:56116994-56117008 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56117444-56117453 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
7	EP300	chr19:56115944-56116843	A549	lung:	n/a	chr19:56116145-56116154
8	CTCF	chr19:56115980-56116130	HCPEpiC	choroid plexus:	n/a	n/a
9	CBX3	chr19:56115795-56116301	K562	blood:	n/a	n/a
10	CTCF	chr19:56116029-56116234	GM12878	blood:	n/a	n/a
11	REST	chr19:56115860-56116841	A549	lung:	n/a	chr19:56116573-56116586 chr19:56116100-56116108
12	REST	chr19:56115995-56116455	A549	lung:	n/a	chr19:56116100-56116108
13	NRF1	chr19:56115804-56117411	SK-N-SH	brain:	n/a	chr19:56116858-56116872 chr19:56116788-56116799 chr19:56116788-56116799 chr19:56116690-56116699 chr19:56116861-56116870 chr19:56116861-56116872 chr19:56116788-56116802 chr19:56116534-56116543 chr19:56116948-56116955
14	SP1	chr19:56115878-56117128	A549	lung:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56117056-56117070 chr19:56115982-56115994 chr19:56116691-56116700 chr19:56116998-56117007 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116997-56117009 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116997-56117009 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116991-56117000 chr19:56116994-56117008 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
15	SIX5	chr19:56115994-56116300	A549	lung:	n/a	n/a
16	POLR2A	chr19:56115967-56117792	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr19:56115980-56116130	AG09319	gingival:	n/a	n/a
18	MAX	chr19:56115857-56118135	A549	lung:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
19	MAZ	chr19:56115892-56118114	K562	blood:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
20	POLR2A	chr19:56115859-56118733	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr19:56116072-56117287	ECC-1	luminal epithelium:	n/a	n/a
22	ETS1	chr19:56115923-56117142	A549	lung:	n/a	chr19:56117011-56117024 chr19:56116688-56116699 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56117010-56117021 chr19:56116945-56116954 chr19:56116734-56116743 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56117009-56117025 chr19:56116039-56116050 chr19:56117012-56117021 chr19:56117012-56117021 chr19:56116532-56116543 chr19:56117012-56117021 chr19:56117010-56117020
23	GABPA	chr19:56115948-56117988	A549	lung:	n/a	chr19:56116858-56116872 chr19:56116788-56116799 chr19:56116690-56116699 chr19:56116861-56116870 chr19:56116861-56116872 chr19:56116788-56116802 chr19:56116534-56116543 chr19:56116948-56116955
24	POLR2A	chr19:56115877-56117080	HCT-116	colon:	n/a	n/a
25	YY1	chr19:56115943-56116226	HCT-116	colon:	n/a	chr19:56116038-56116052
26	PBX3	chr19:56115937-56117349	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr19:56115980-56117993	GM18505	blood:	n/a	n/a
28	POLR2A	chr19:56115798-56117257	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr19:56116060-56118071	IMR90	lung:	n/a	n/a
30	POLR2A	chr19:56115953-56116503	K562	blood:	n/a	n/a
31	POLR2A	chr19:56115902-56117498	HL-60	blood:	n/a	n/a
32	POLR2A	chr19:56115858-56117932	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr19:56116020-56116170	GM12878	blood:	n/a	n/a
34	RFX5	chr19:56115868-56118564	IMR90	lung:	n/a	n/a
35	YY1	chr19:56115946-56116369	H1-hESC	embryonic stem cell:	n/a	chr19:56116038-56116052
36	MAX	chr19:56116077-56117971	Hela-S3	cervix:	n/a	chr19:56116532-56116542 chr19:56116876-56116886 chr19:56116995-56117005
37	CTCF	chr19:56115960-56116110	AG04449	skin:	n/a	n/a
38	POLR2A	chr19:56115967-56118680	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr19:56116068-56116940	Hela-S3	cervix:	n/a	chr19:56116532-56116542 chr19:56116876-56116886
40	TBP	chr19:56115955-56116973	H1-hESC	embryonic stem cell:	n/a	n/a
41	REST	chr19:56115811-56117998	H1-neurons	neurons:	n/a	chr19:56116573-56116586 chr19:56117647-56117661 chr19:56117208-56117218 chr19:56116100-56116108 chr19:56117590-56117603
42	CTCF	chr19:56116080-56116230	HBMEC	blood vessel:	n/a	n/a
43	POLR2A	chr19:56115869-56118088	HCT-116	colon:	n/a	n/a
44	TAF1	chr19:56116051-56117225	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr19:56115830-56117188	H1-hESC	embryonic stem cell:	n/a	n/a
46	CUX1	chr19:56116076-56116483	K562	blood:	n/a	n/a
47	ELF1	chr19:56115990-56116330	A549	lung:	n/a	chr19:56116039-56116051
48	POLR2A	chr19:56116067-56118104	GM12892	blood:	n/a	n/a
49	SP1	chr19:56115940-56116881	H1-hESC	embryonic stem cell:	n/a	chr19:56116015-56116025 chr19:56116530-56116544 chr19:56115982-56115994 chr19:56116691-56116700 chr19:56116533-56116545 chr19:56116515-56116524 chr19:56116015-56116025 chr19:56116690-56116700 chr19:56115982-56115994 chr19:56116689-56116701 chr19:56116691-56116700 chr19:56116515-56116524 chr19:56116513-56116525 chr19:56116690-56116699 chr19:56116514-56116524 chr19:56116670-56116680 chr19:56116535-56116544 chr19:56116533-56116545 chr19:56116686-56116700 chr19:56116670-56116680 chr19:56116534-56116544 chr19:56116690-56116700 chr19:56116689-56116701 chr19:56116535-56116544 chr19:56115984-56115993 chr19:56116514-56116524 chr19:56116514-56116523 chr19:56116513-56116525 chr19:56116534-56116544 chr19:56115979-56115993 chr19:56116510-56116524 chr19:56116534-56116543
50	TBL1XR1	chr19:56116066-56116486	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56115235..56119649-chr19:56131831..56136050,11	K562	blood:
2	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
3	chr19:56115993..56118637-chr19:56165089..56166891,2	K562	blood:
4	chr19:56115086..56118069-chr19:56150430..56156112,7	MCF-7	breast:
5	chr19:56089635..56093860-chr19:56114549..56117863,7	MCF-7	breast:
6	chr19:55987823..55989523-chr19:56114913..56117449,2	MCF-7	breast:
7	chr19:56090169..56092929-chr19:56114581..56116716,3	K562	blood:
8	chr19:56114376..56117189-chr19:56151962..56154337,3	K562	blood:
9	chr19:55894932..55897598-chr19:56114798..56116891,2	MCF-7	breast:

Variant related genes	Relation type
ZNF865	TF binding region
FIZ1	TF binding region
ENSG00000063245	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56720543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56920136	0.94[AFR][1000 genomes]
rs57457524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57811747	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60933383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61631229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610895	1.00[AMR][1000 genomes]
rs73612827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615220	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56112400-56116400	Weak transcription	Aorta	Aorta
2	chr19:56113000-56116200	Weak transcription	Small Intestine	intestine
3	chr19:56113200-56116200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56114600-56116600	Weak transcription	Gastric	stomach
5	chr19:56115000-56117800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:56115200-56116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:56115400-56116400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:56115400-56116600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:56115400-56116600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:56115400-56117800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr19:56115600-56116600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:56115600-56117400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:56115600-56117600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:56115600-56117800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:56115600-56117800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:56115800-56116400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:56115800-56116400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:56115800-56116400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr19:56115800-56116400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:56115800-56116400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:56115800-56116400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr19:56115800-56116400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr19:56115800-56116400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:56115800-56116400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr19:56115800-56116400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr19:56115800-56116400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:56115800-56116400	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr19:56115800-56116400	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr19:56115800-56116400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr19:56115800-56116400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr19:56115800-56116400	Flanking Active TSS	Fetal Stomach	stomach
32	chr19:56115800-56116400	Flanking Active TSS	A549	lung
33	chr19:56115800-56116400	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:56115800-56116400	Flanking Active TSS	Hela-S3	cervix
35	chr19:56115800-56116600	Flanking Active TSS	Thymus	Thymus
36	chr19:56115800-56116800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:56115800-56116800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:56115800-56116800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr19:56115800-56116800	Flanking Active TSS	Dnd41	blood
40	chr19:56115800-56117400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr19:56115800-56117400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:56115800-56117400	Active TSS	Fetal Brain Female	brain
43	chr19:56115800-56117800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:56115800-56117800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:56115800-56117800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr19:56115800-56117800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:56115800-56117800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:56115800-56117800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:56115800-56117800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:56115800-56117800	Active TSS	Duodenum Smooth Muscle	Duodenum

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